Canonical Allele Identifier: CA2246165869
Gene:

Linked Data

dbSNP Id: rs1981892492

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8137504T>C , CM000679.2:g.8137504T>C GRCh38
NC_000017.10:g.8040822T>C , CM000679.1:g.8040822T>C GRCh37
NC_000017.9:g.7981547T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_934202.1:n.183-1345T>C
XR_934203.1:n.70-1973T>C
XR_934202.2:n.414-1345T>C